David Richer Araujo Coelho, Isabel Cristina Melo Mendes, Roxana Flores Mamani, Rogerio Oliveira da Luz, Ana Luiza Martins de Oliveira, Clarisse Pimentel
{"title":"Guillain-Barré Syndrome and Encephalitis Following a Cytomegalovirus Infection in an Immunocompetent Adult: A Case Report","authors":"David Richer Araujo Coelho, Isabel Cristina Melo Mendes, Roxana Flores Mamani, Rogerio Oliveira da Luz, Ana Luiza Martins de Oliveira, Clarisse Pimentel","doi":"10.12659/ajcr.944337","DOIUrl":"https://doi.org/10.12659/ajcr.944337","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"25 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141354651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fabio Pio Curci, Pasquale Cianci, Marco Montagna, Miriam Cappiello, Laura Cafagna, E. Restini
{"title":"A 42-Year-Old Woman with Recurrent Pancreatitis Associated with Gallstones and Phrygian Cap Gallbladder","authors":"Fabio Pio Curci, Pasquale Cianci, Marco Montagna, Miriam Cappiello, Laura Cafagna, E. Restini","doi":"10.12659/ajcr.943435","DOIUrl":"https://doi.org/10.12659/ajcr.943435","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"66 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141350565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mario Ćuk, Luka Lovrenčić, Busra Unal, McKenzie Walker, Connor P Hayes, Goran Krakar, Robert Belužić, Ivona Sansović, Goran Pavliša, A. Ghazani
and bilateral optic nerve hypoplasia, Chiari malformation type I with normal myelinization. A comprehensive joint whole-genome analysis (WGS) of the proband and her unaffected parents was performed. The trio-WGS analysis identified novel de novo nonsense variants AGO3 : c.1324C>T (p.Gln442*) and KHSRP : c.1573C>T (p.Gln525*). These variants have not been reported in gnomAD and published literature. AGO3 and KHSRP are not currently associated with a known phenotype in the Online Mendelian Inheritance in Man (OMIM); however, they may be involved in neuronal development. Conclusions: This report highlights the utility of joint WGS analysis in identifying novel de novo genomic alterations in a patient with the spectrum of phenotypes of GDD and neurodevelopmental disorders. The role of these variants and genes in GDD requires further studies.
{"title":"Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis","authors":"Mario Ćuk, Luka Lovrenčić, Busra Unal, McKenzie Walker, Connor P Hayes, Goran Krakar, Robert Belužić, Ivona Sansović, Goran Pavliša, A. Ghazani","doi":"10.12659/ajcr.943641","DOIUrl":"https://doi.org/10.12659/ajcr.943641","url":null,"abstract":"and bilateral optic nerve hypoplasia, Chiari malformation type I with normal myelinization. A comprehensive joint whole-genome analysis (WGS) of the proband and her unaffected parents was performed. The trio-WGS analysis identified novel de novo nonsense variants AGO3 : c.1324C>T (p.Gln442*) and KHSRP : c.1573C>T (p.Gln525*). These variants have not been reported in gnomAD and published literature. AGO3 and KHSRP are not currently associated with a known phenotype in the Online Mendelian Inheritance in Man (OMIM); however, they may be involved in neuronal development. Conclusions: This report highlights the utility of joint WGS analysis in identifying novel de novo genomic alterations in a patient with the spectrum of phenotypes of GDD and neurodevelopmental disorders. The role of these variants and genes in GDD requires further studies.","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":" 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141373863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shehryar Malik, Martha F. Brucato, Laura Faiver, Tung Phan, Mohamed H. Yassin, Jonathan M. Bishop, S. Kapoor
{"title":"Severe Fatal ARDS Due to Untreated Human Granulocytic Anaplasmosis in a 67-Year-Old Man: A Case Report","authors":"Shehryar Malik, Martha F. Brucato, Laura Faiver, Tung Phan, Mohamed H. Yassin, Jonathan M. Bishop, S. Kapoor","doi":"10.12659/ajcr.943966","DOIUrl":"https://doi.org/10.12659/ajcr.943966","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":" 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141373052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Laura Owczarzak, T. Alrifai, Shivi Jain, Irene dehghan-Paz
{"title":"Uncommon Presentation of Post-Transfusion Purpura in an Elderly Male: A Case Report and Unique Alloantibody Identification","authors":"Laura Owczarzak, T. Alrifai, Shivi Jain, Irene dehghan-Paz","doi":"10.12659/ajcr.942949","DOIUrl":"https://doi.org/10.12659/ajcr.942949","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"177 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141376005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Mottola, M. Bassi, Camilla Poggi, Tiziano De Giacomo
was performed after the introduction of a suction cannula in the aneurysm, which facilitated its emptying and the subsequent maneuvers. Conclusions: PAA is a rare disease, generally treated with medical therapy or interventional procedures. However, giant and fast-growing aneurysms are more likely to entail complications and often required immediate treatment. In this case, primary surgical intervention with a pulmonary bilobectomy appeared mandatory to avoid life-threatening events.
{"title":"Surgical Intervention for Giant Pulmonary Artery Aneurysm in Behcet Disease: A Case Report","authors":"E. Mottola, M. Bassi, Camilla Poggi, Tiziano De Giacomo","doi":"10.12659/ajcr.942869","DOIUrl":"https://doi.org/10.12659/ajcr.942869","url":null,"abstract":"was performed after the introduction of a suction cannula in the aneurysm, which facilitated its emptying and the subsequent maneuvers. Conclusions: PAA is a rare disease, generally treated with medical therapy or interventional procedures. However, giant and fast-growing aneurysms are more likely to entail complications and often required immediate treatment. In this case, primary surgical intervention with a pulmonary bilobectomy appeared mandatory to avoid life-threatening events.","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"55 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141383927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mengsha Wang, Tao Huang, Jia-xun Li, Yang Yao, Ying Chen, Kai-kai Fu, Wen-rong Miao, Yi Han
tor-tuosity, and swelling, especially on the right side. Orbital MRI T2 sequence showed the typical “double track sign” change. The titers of MOG-IgG in CSF and serum were 1: 1 (+) and 1: 32 (+) separately, so MOGAD was diagnosed. The primary treatment was intravenous methylprednisolone for 2 weeks, after which the blurred vision improved and MRI showed the optic nerve lesions disappeared. She was discharged and oral corticosteroids were tapered gradually, and 1 month later, the symptom had vanished without recurrence, cranial MRI was normal, and MOG-IgG in CSF and serum were negative. Low-dose oral corticosteroids were continued for 6 months, with no relapse and normal cranial MRI, so we stopped corticosteroid therapy. At 1-year follow-up, the symptoms had not recurred. Conclusions: A 42-year-old woman presented with loss of vision due to optic neuritis and positive antibody testing for MOG. MOGAD was diagnosed, and timely immunotherapy was effective.
{"title":"Optic Neuritis Leading to Vision Loss: A Case of MOG-Associated Disease with Successful Immunotherapy","authors":"Mengsha Wang, Tao Huang, Jia-xun Li, Yang Yao, Ying Chen, Kai-kai Fu, Wen-rong Miao, Yi Han","doi":"10.12659/ajcr.943112","DOIUrl":"https://doi.org/10.12659/ajcr.943112","url":null,"abstract":"tor-tuosity, and swelling, especially on the right side. Orbital MRI T2 sequence showed the typical “double track sign” change. The titers of MOG-IgG in CSF and serum were 1: 1 (+) and 1: 32 (+) separately, so MOGAD was diagnosed. The primary treatment was intravenous methylprednisolone for 2 weeks, after which the blurred vision improved and MRI showed the optic nerve lesions disappeared. She was discharged and oral corticosteroids were tapered gradually, and 1 month later, the symptom had vanished without recurrence, cranial MRI was normal, and MOG-IgG in CSF and serum were negative. Low-dose oral corticosteroids were continued for 6 months, with no relapse and normal cranial MRI, so we stopped corticosteroid therapy. At 1-year follow-up, the symptoms had not recurred. Conclusions: A 42-year-old woman presented with loss of vision due to optic neuritis and positive antibody testing for MOG. MOGAD was diagnosed, and timely immunotherapy was effective.","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"64 S2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141385500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
improved. Upon discharge, the patient was prescribed oral fluconazole. Follow-up examinations showed a stable condition and a negative serum cryptococcal capsular polysaccharide antigen test. Conclusions: Given the rarity and lack of specificity of clinical features of cryptococcal spondylitis, clinicians encountering similar presentations should consider tuberculous spondylitis and spinal tumors as differential diagnoses. Additionally, tissue biopsy of the affected vertebral bodies should be performed early to establish the type of vertebral infection, aiding in diagnosis, treatment, and prognosis.
{"title":"Destructive Cryptococcal Osteomyelitis Mimicking Tuberculous Spondylitis","authors":"Yifan Zhou, Xiaoli Huang, Yufei Liu, Yuan-hong Zhou, Xiaolin Zhou, Qiang Liu","doi":"10.12659/ajcr.944291","DOIUrl":"https://doi.org/10.12659/ajcr.944291","url":null,"abstract":"improved. Upon discharge, the patient was prescribed oral fluconazole. Follow-up examinations showed a stable condition and a negative serum cryptococcal capsular polysaccharide antigen test. Conclusions: Given the rarity and lack of specificity of clinical features of cryptococcal spondylitis, clinicians encountering similar presentations should consider tuberculous spondylitis and spinal tumors as differential diagnoses. Additionally, tissue biopsy of the affected vertebral bodies should be performed early to establish the type of vertebral infection, aiding in diagnosis, treatment, and prognosis.","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"31 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141382421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ghader Jamjoum, Fatima S. Arab, Rama Tayeb, Ali Samkari, Adel Ali Johari, Laila Ashkar, Jumana Akbar
{"title":"Cutaneous Metastasis in Breast Cancer: A Case Report","authors":"Ghader Jamjoum, Fatima S. Arab, Rama Tayeb, Ali Samkari, Adel Ali Johari, Laila Ashkar, Jumana Akbar","doi":"10.12659/ajcr.943999","DOIUrl":"https://doi.org/10.12659/ajcr.943999","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"332 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141386547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Z. Alwafai, Claudia Kolbe, Judith Kruse-Wieczorek, Mohammad Nour Khanji, Marek Zygmunt
{"title":"Challenging Diagnosis of Late Abdominal Pregnancy: A Case Study of Misdiagnosis and Fetal Death in the Third Trimester","authors":"Z. Alwafai, Claudia Kolbe, Judith Kruse-Wieczorek, Mohammad Nour Khanji, Marek Zygmunt","doi":"10.12659/ajcr.943625","DOIUrl":"https://doi.org/10.12659/ajcr.943625","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141383755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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